Leptocephaly
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Leptocephaly
Leptocephaly is a rare form of complex craniosynostosis (usually considered a form of scaphocephaly) in which the sagittal and metopic suture simultaneously close. Leptocephaly is characterized by equal narrowing of the head (from full sagittal fusion) and a tall and narrow (rather than long) head shape. Leptocephaly is usually nonsyndromic, but has been seen in individual cases such as Neu-Laxova syndrome. The term ''leptocephaly'' has also been used (erroneously) to refer to microcephaly. See also * List of conditions with craniosynostosis * Trigonocephaly Trigonocephaly is a congenital condition due to premature Synostosis, fusion of the metopic suture (), leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth ex ... (isolated metopic synostosis) References External links MedGen NCBI entry Anatomical pathology Congenital disorders of musculoskeletal system {{improve catego ...
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Scaphocephaly
Scaphocephaly or sagittal craniosynostosis is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull, resulting in a characteristic long, narrow head. The skull base is typically spared. The word comes . Scaphocephaly is the most common of the craniosynostosis conditions and accounts for approximately 50% of all craniosynostosis. It is most commonly idiopathic (non-syndromic). Etiology Non-syndromic The underlying cause of the non-syndromic form is unknown. Over 100 mutations have been associated, including mutations in the FGFR genes. Several potential risk factors have been identified for craniosynostosis include: * Advanced maternal age * White maternal race * Maternal smoking * Male infant * Certain paternal occupations (e.g. agriculture, forestry, repairmen) Syndromic Sagittal craniosynostosis is seen in many conditions and syndromes: * Acrocephalosy ...
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Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ...
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Occipital
The occipital bone () is a cranial dermal bone and the main bone of the occiput (back and lower part of the skull). It is trapezoidal in shape and curved on itself like a shallow dish. The occipital bone lies over the occipital lobes of the cerebrum. At the base of the skull in the occipital bone, there is a large oval opening called the foramen magnum, which allows the passage of the spinal cord. Like the other cranial bones, it is classed as a flat bone. Due to its many attachments and features, the occipital bone is described in terms of separate parts. From its front to the back is the basilar part, also called the basioccipital, at the sides of the foramen magnum are the lateral parts, also called the exoccipitals, and the back is named as the squamous part. The basilar part is a thick, somewhat quadrilateral piece in front of the foramen magnum and directed towards the pharynx. The squamous part is the curved, expanded plate behind the foramen magnum and is the largest p ...
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Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ. Craniosynostosis occurs in one in 2000 births. Craniosynostosis is part of a syndrome in 15% to 40% of affected patients, but it usually occurs as an isol ...
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Sagittal Suture
The sagittal suture, also known as the interparietal suture and the ''sutura interparietalis'', is a dense, fibrous connective tissue joint between the two parietal bones of the skull. The term is derived from the Latin word ''sagitta'', meaning arrow. Structure The sagittal suture is formed from the fibrous connective tissue joint between the two parietal bones of the skull. It has a varied and irregular shape which arises during development. The pattern is different between the inside and the outside. Two anatomical landmarks are found on the sagittal suture: the bregma, and the vertex of the skull. The bregma is formed by the intersection of the sagittal and coronal sutures. The vertex is the highest point on the skull and is often near the midpoint of the sagittal suture. Development At birth, the bones of the skull do not meet. The gap that remains, which is approximately 5 mm wide, allows for the brain to continue to grow normally after birth. The inner parts of ...
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Metopic Suture
The frontal suture is a fibrous joint that divides the two halves of the frontal bone of the human skull, skull in infants and children. Typically, it completely fuses between three and nine months of age, with the two halves of the frontal bone being fused together. It is also called the metopic suture, although this term may also refer specifically to a ''persistent frontal suture''. If the suture is not present at birth because both frontal bones have fused (craniosynostosis), it will cause a keel-shaped deformity of the skull called trigonocephaly. Its presence in a fetal skull, along with other cranial suture (joint), sutures and fontanelles, provides a malleability to the skull that can facilitate movement of the head through the cervical canal and vagina during delivery. The dense connective tissue found between the frontal bones is replaced with bone tissue as the child grows older. Persistent frontal suture In some individuals, the suture can persist (totally or partl ...
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Neu–Laxova Syndrome
Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971 and Dr. Renata Laxova in 1972 as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature. Signs and symptoms Neu-Laxova syndrome presents with severe malformations leading to prenatal or neonatal death. Typically, NLS involves characteristic facial features, decreased fetal movements and skin abnormalities. Fetuses or newborns with Neu–Laxova syndrome have typical facial characteristics which include proptosis (bulging eyes) with eyelid malform ...
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Microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can a ...
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List Of Conditions With Craniosynostosis
Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural craniosynostosis. 0-9 A B C D E F G H I J L M N O P R S T V Z References

{{DEFAULTSORT:Conditions with craniosynostosis Medical lists Congenital disorders of musculoskeletal system, craniosynostosis Cranial sutures Syndromes affecting head size ...
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